Cytogenetics of infertile men

Assche, E. Van; Bonduelle, M; Tournaye, Herman; Joris, Hubert; Verheyen, Greta; Devroey, Paul; Steirteghem, André Van; Liebaers, Inge

doi:10.1093/humrep/11.suppl_4.1

Cited by 476 publications

(305 citation statements)

References 85 publications

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“…Although our results reflect a regional pattern of those referrals, comparison of our results with the review of the literature shows a relatively smaller incidence of chromosomal anomalies in azoospermia in our center. The chromosomal abnormality frequency in males with oligospermia was reported as 1.8-6.9% in several studies [4,6,[24][25][26]. In our study, any chromosomal abnormality wasn't detected in all the oligozoospermia cases.…”

Section: Discussioncontrasting

confidence: 58%

“…In the presented study, chromosomal abnormalities were detected in 5.4% of 92 azoospermic cases and no patients of 23 oligozoospermic cases. The chromosomal abnormality ratio in azoospermia was given as 12.5-31% [4,6,[23][24][25][26]. Although our results reflect a regional pattern of those referrals, comparison of our results with the review of the literature shows a relatively smaller incidence of chromosomal anomalies in azoospermia in our center.…”

Section: Discussioncontrasting

confidence: 54%

“…The numerical and structural chromosomal abnormalities are seen frequently in azoospermia and oligospermia cases with unknown etiology [3]. In the cytogenetic analysis of 94,465 newborn male infants, the chromosomal abnormality ratio is reported as 0.38% (0.14% gonosomal, 0.25% autosomal) [4]. It could be approximated throughout the literature that the overall incidence of a chromosomal factor in infertile males ranges between 2% to 10% [4,5].…”

Section: Introductionmentioning

confidence: 99%

“…In the cytogenetic analysis of 94,465 newborn male infants, the chromosomal abnormality ratio is reported as 0.38% (0.14% gonosomal, 0.25% autosomal) [4]. It could be approximated throughout the literature that the overall incidence of a chromosomal factor in infertile males ranges between 2% to 10% [4,5]. It was reported that the chromosomal abnormality ratio as 6% in oligospermia cases and 19% in azospermia cases [6].…”

Section: Introductionmentioning

confidence: 99%

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Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia

Koşar

Özçelik

Koşar

2010

J Assist Reprod Genet

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Purpose To find the frequency and types of major chromosomal abnormalities with nonobstructive azoospermia and severe oligozoospermia to give appropriate genetic counseling before assisted reproduction techniques in Isparta (South of Turkey), and to investigate the general characteristics in this infertile male population. Methods and patients A total of 115 infertile males (92 were azoospermic, 23 severe oligospermic) were studied for the cytogenetic evaluation prior to use of assisted reproduction techniques. Also, 60 fertile males as a control group were studied. Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Levels of luteinising hormone, follicle-stimulating hormone (FSH), testosterone and prolactin were obtained and a testicular sonography examination was conducted. Results The total prevalence of chromosomal abnormalities was found to be 4.3% (5/115), including 4 patients with Klinefelter's Syndrome and 1 patient with gonadal dysygenesis (46XX). All of them were azoospermic males, corresponding to a frequency of 5.4% (5/92 patients). Oligozoospermic males and control males had no chromosomal abnormalities. There was a significant difference in serum FSH, LH, mean testicular volume and smoking when comparing patients (both azoospermic and oligozoospermic) and control groups (p<0.05). Also, there was a significant difference in serum FSH, LH and mean testicular volume when compared with azoospermic and oligozoospermic patients (p<0.05) Conclusions The occurrence of chromosomal abnormalities among infertile males strongly suggests the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.

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Section: Discussioncontrasting

confidence: 58%

Section: Discussioncontrasting

confidence: 54%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia

Koşar

Özçelik

Koşar

2010

J Assist Reprod Genet

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“…The third and most likely cause of adverse outcomes is the non-natural selection of a single sperm (ejaculated or non-ejaculated) which may lead to the passage of genetic defects that have caused the male infertility in the first place. 4,14 It has been interesting to see over the years that most studies comparing ICSI with in vitro fertilisation (IVF) generally report no increased risks associated with ICSI over and above those associated with IVF in any particular outcomes for the offspring. [15][16][17][18][19] There has been a recent study from Norway reporting that ICSI pregnancies have a lower risk of iatrogenic moderate preterm delivery, than IVF pregnancies.…”

Section: Introductionmentioning

confidence: 99%

Outcomes for offspring of men having ICSI for male factor infertility

Halliday¹

2011

Asian J Androl

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Since the introduction of intracytoplasmic sperm injection (ICSI) using single sperm isolated from testicular tissue in men with obstructive and non-obstructive azoospermia, or using ejaculated sperm in those with poor semen quality, there have been concerns that this might have adverse effects on the offspring compared to conventional in vitro fertilisation (IVF) and natural conceptions. ICSI is done for reasons other than male factor infertility, and on the whole has not been shown to have any more negative effects than those seen with IVF. There have however, been very few studies of ICSI with a focus on, or large enough numbers to examine, the specific outcomes associated with male factor infertility. From the limited information available in relation to the source of the sperm and aetiology of infertility in the presence of ICSI, there appears to be no increased risk of congenital malformations. There is, however, a small increase in both de novo and inherited chromosome abnormalities. In terms of growth and neurodevelopment, there are very few studies, and so far, no adverse outcomes have been found in young children whose fathers have a sperm defect. The origin of the sperm used in ICSI does not have a major influence on the early life outcomes for the offspring, but transgenerational and epigenetic effects remain unknown. When the male factor infertility is known or thought to be due to a Y-chromosome deletion, this information should be given to the young male offspring at a time that will ensure his own reproductive health and plans are optimized.

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Gonadotropin Interpretation in a 25-Year-Old Man

Kashanian

Brannigan

2016

JAMA

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Cytogenetics of infertile men

Cited by 476 publications

References 85 publications

Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia

Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia

Outcomes for offspring of men having ICSI for male factor infertility

Gonadotropin Interpretation in a 25-Year-Old Man

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